Till sidans topp

Sidansvarig: Webbredaktion
Sidan uppdaterades: 2012-09-11 15:12

Tipsa en vän
Utskriftsversion

Analysis of neurodegenera… - Göteborgs universitet Till startsida
Webbkarta
Till innehåll Läs mer om hur kakor används på gu.se

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

Artikel i vetenskaplig tidskrift
Författare T. Orme
D. Hernandez
O. A. Ross
C. Kun-Rodrigues
L. Darwent
C. E. Shepherd
L. Parkkinen
O. Ansorge
L. Clark
L. S. Honig
K. Marder
A. Lemstra
E. Rogaeva
P. S. George-Hyslop
E. Londos
Henrik Zetterberg
K. Morgan
C. Troakes
S. Al-Sarraj
T. Lashley
J. Holton
Y. Compta
V. Van Deerlin
J. Q. Trojanowski
G. E. Serrano
T. G. Beach
S. Lesage
D. Galasko
E. Masliah
I. Santana
P. Pastor
P. J. Tienari
L. Myllykangas
M. Oinas
T. Revesz
A. Lees
B. F. Boeve
R. C. Petersen
T. J. Ferman
V. Escott-Price
N. Graff-Radford
N. J. Cairns
J. C. Morris
S. Pickering-Brown
D. Mann
G. Halliday
D. J. Stone
D. W. Dickson
J. Hardy
A. Singleton
R. Guerreiro
J. Bras
Publicerad i Acta neuropathologica communications
Volym 8
Nummer/häfte 1
ISSN 2051-5960
Publiceringsår 2020
Publicerad vid Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi
Språk en
Länkar dx.doi.org/10.1186/s40478-020-0879-...
Ämnesord frontotemporal dementia, alpha-synuclein, alzheimers-disease, notch3, mutations, apolipoprotein-e, pagets-disease, body disease, progranulin, genome, tau, Neurosciences & Neurology
Ämneskategorier Psykiatri, Neurokemi

Sammanfattning

Dementia with Lewy bodies (DLB) is a clinically heterogeneous disorder with a substantial burden on healthcare. Despite this, the genetic basis of the disorder is not well defined and its boundaries with other neurodegenerative diseases are unclear. Here, we performed whole exome sequencing of a cohort of 1118 Caucasian DLB patients, and focused on genes causative of monogenic neurodegenerative diseases. We analyzed variants in 60 genes implicated in DLB, Alzheimer's disease, Parkinson's disease, frontotemporal dementia, and atypical parkinsonian or dementia disorders, in order to determine their frequency in DLB. We focused on variants that have previously been reported as pathogenic, and also describe variants reported as pathogenic which remain of unknown clinical significance, as well as variants associated with strong risk. Rare missense variants of unknown significance were found in APP, CHCHD2, DCTN1, GRN, MAPT, NOTCH3, SQSTM1, TBK1 and TIA1. Additionally, we identified a pathogenic GRN p.Arg493* mutation, potentially adding to the diversity of phenotypes associated with this mutation. The rarity of previously reported pathogenic mutations in this cohort suggests that the genetic overlap of other neurodegenerative diseases with DLB is not substantial. Since it is now clear that genetics plays a role in DLB, these data suggest that other genetic loci play a role in this disease.

Sidansvarig: Webbredaktion|Sidan uppdaterades: 2012-09-11
Dela:

På Göteborgs universitet använder vi kakor (cookies) för att webbplatsen ska fungera på ett bra sätt för dig. Genom att surfa vidare godkänner du att vi använder kakor.  Vad är kakor?